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Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome

Tomoko Horinouchi, Kandai Nozu, Tomohiko Yamamura, Shogo Minamikawa, Takashi Omori, Keita Nakanishi, Junya Fujimura, Akira Ashida, Mineaki Kitamura, Mitsuhiro Kawano,

Journal of the American Society of Nephrology · 2018 · 59 citations · 17 references

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Abstract

We report unpredictable atypical splicing in the <i>COL4A5</i> gene in male patients with XLAS and reveal that renal prognosis differs significantly for patients with truncating versus nontruncating splicing abnormalities. Our results suggest that splicing modulation should be explored as a therapy for XLAS with truncating mutations.

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